Crouzonodermoskeletal syndrome

Below you will find more information about Crouzonodermoskeletal syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Crouzonodermoskeletal syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Crouzonodermoskeletal syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Crouzonodermoskeletal syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Crouzondermoskeletal syndrome is a rare disorder not unlike Crouzon syndrome because it is caused by specific bones in our skull that join prematurely. It is distinguished from Crouzon syndrome by other disorders that also afflict patients with Crouzondermoskeletal, such as skin condition acanthosis nigricans, which is characterized by dark and thick skin in our body folds, changes in the vertebrae on x-rays, and the probable development of noncancerous cementomas during adulthood..

Diagnosis

Doctors can easily detect Crouzondermoskeletal syndrome just by looking at the skin. In some cases, skin biopsy is required, while blood tests, endoscopy and x-rays are needed to eliminate other causes.

Treatment

Treatments for the skin disorder may not be required.

Symptoms and Signs

Crouzonodermoskeletal syndrome shares some symptoms with the disorder called Crouzon syndrome. Individuals afflicted with both diseases will have upper jaws that are underdeveloped, misshapen head and face, a beaked nose, eye sockets that are shallow, and bulging and wide-set eyes. They also tend to have normal intelligence.

Causes

The root of Crouzonodermoskeletal syndrome are the mutations in FGFR3, the gene responsible for the production of a protein involved in developing and maintaining the tissues of our bones as well as our brain's. The mutation is believed to interrupt growth of the bones and alter skin pigmentation.